Pigv^b2b2859Clo
Chemically induced Allele Detail

Summary

• Symbol: Pigv^b2b2859Clo
• Name: phosphatidylinositol glycan anchor biosynthesis, class V; Bench to Bassinet Program (B2B/CVDC), mutation 2859 Cecilia Lo
• MGI ID: MGI:5645357
• Gene: Pigv Location: Chr4:133387698-133399958 bp, - strand Genetic Position: Chr4, 66.25 cM
• Alliance: Pigv^b2b2859Clo page

Mutant 2859-002-1 (E15.5) presents with outflow tract misalignment and a hypoplastic transverse aortic arch which is diagnosed as an overriding aorta by episcopic confocal histopathology.

Show the 20 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: B2B/CvDC

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a G to A substitution at coding nucleotide 563 in exon 3 of the cDNA (c.563G>A, NM_178698). This changes the arginine residue to histidine at position 188 of the encoded protein (p.R188H). (J:175213)

Expression

In Structures Affected by this Mutation:

9 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Pigv Mutation: 50 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotypes: Overriding aorta/Double outlet right ventricle (DORV) with atrioventricular (AVSD) or ventricular septal defects (VSD), right aortic arch, vascular ring.

Noncardiovascular phenotype: Mutants are runted, with hypoplastic thymus, craniofacial defects including microphthalmia, micrognathia, and cleft palate, and kidney defects such as hydronephrosis, duplex kidney, and glomerular cysts.

Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Codes	Code Description
1300	Ventricular septal defect
1432	Overriding aortic valve
2720	Right aortic arch
2760	Vascular ring
4163	Micrognathia
4502	Hydronephrosis
4508	Polycystic kidney disease
4876	Cleft palate
4877	Microphthalmia
4906	Non-cardiac abnormality
600	Double outlet right ventricle
606	DORV + AVSD (AV canal)

References

• Original: J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-09-12
• All: 2 reference(s)